Condition: Mitochondrial DNA Depletion Syndrome 1


rs1060499532 in SCO2;TYMP gene and Mitochondrial DNA Depletion Syndrome 1 PMID 21933806 2011 Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

PMID 12529715 2003 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

PMID 10852545 2000 Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

PMID 15742109 2005 Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

PMID 14720311 2004 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

PMID 15781193 2005 Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

PMID 19056268 2009 Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

PMID 12084896 2002 MNGIE: diarrhea and leukoencephalopathy.

PMID 17437622 2007 Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.

PMID 23430799 2013 MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.

PMID 19344718 2009 Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

PMID 20151198 2010 Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.

PMID 9924029 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

PMID 23341816 2012 Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

PMID 12177387 2002 Phenotypic variability in a Spanish family with MNGIE.

rs1054084896 in TYMP gene and Mitochondrial DNA Depletion Syndrome 1 PMID 21933806 2011 Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

PMID 12529715 2003 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

PMID 15505189 2004 Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

PMID 15781193 2005 Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

PMID 18280229 2008 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene.

PMID 14720311 2004 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

PMID 10852545 2000 Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

PMID 9924029 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

PMID 12177387 2002 Phenotypic variability in a Spanish family with MNGIE.

PMID 12084896 2002 MNGIE: diarrhea and leukoencephalopathy.

PMID 14757860 2004 MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

PMID 20232099 2010 A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

PMID 17294068 2007 Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

rs1060499534 in TYMP;SCO2 gene and Mitochondrial DNA Depletion Syndrome 1 PMID 21933806 2011 Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

PMID 19748572 2009 Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

PMID 14720311 2004 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.

PMID 15505189 2004 Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.

PMID 12529715 2003 Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.

PMID 12177387 2002 Phenotypic variability in a Spanish family with MNGIE.

PMID 16198108 2005 Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.

PMID 16178026 2005 Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.

PMID 10852545 2000 Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

PMID 9924029 1999 Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

PMID 15781193 2005 Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.